Clinical and biological progress over 50 years in Rett syndrome

H Leonard, S Cobb, J Downs - Nature Reviews Neurology, 2017 - nature.com
In the 50 years since Andreas Rett first described the syndrome that came to bear his name,
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …

MECP2 disorders: from the clinic to mice and back

LM Lombardi, SA Baker… - The Journal of clinical …, 2015 - Am Soc Clin Investig
Two severe, progressive neurological disorders characterized by intellectual disability,
autism, and developmental regression, Rett syndrome and MECP2 duplication syndrome …

Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study

JL Neul, AK Percy, TA Benke, EM Berry-Kravis… - Nature Medicine, 2023 - nature.com
Rett syndrome is a rare, genetic neurodevelopmental disorder. Trofinetide is a synthetic
analog of glycine–proline–glutamate, the N-terminal tripeptide of the insulin-like growth …

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome

DG Glaze, JL Neul, WE Kaufmann, E Berry-Kravis… - Neurology, 2019 - AAN Enterprises
Objective To determine safety, tolerability, and pharmacokinetics of trofinetide and evaluate
its efficacy in female children/adolescents with Rett syndrome (RTT), a debilitating …

[HTML][HTML] Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome

JL Neul, AK Percy, TA Benke, EM Berry-Kravis… - Contemporary clinical …, 2022 - Elsevier
Introduction Rett syndrome (RTT) is a debilitating neurodevelopmental disorder with no
approved treatments. Trofinetide is a synthetic analog of glycine–proline–glutamate, the N …

What's wrong with my mouse model?: Advances and strategies in animal modeling of anxiety and depression

AV Kalueff, M Wheaton, DL Murphy - Behavioural brain research, 2007 - Elsevier
Stress plays a key role in pathogenesis of anxiety and depression. Animal models of these
disorders are widely used in behavioral neuroscience to explore stress-evoked brain …

Rett syndrome: a genetic update and clinical review focusing on comorbidities

WA Gold, R Krishnarajy, C Ellaway… - ACS chemical …, 2018 - ACS Publications
Rett syndrome (RTT) is a unique neurodevelopmental disorder that primarily affects females
resulting in severe cognitive and physical disabilities. Despite the commendable collective …

Developmental delay in Rett syndrome: data from the natural history study

JL Neul, JB Lane, HS Lee, S Geerts, JO Barrish… - Journal of …, 2014 - Springer
Background Early development appears normal in Rett syndrome (OMIM# 312750) and may
be more apparent than real. A major purpose of the Rett Syndrome (RTT) Natural History …

Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome

NA Stearns, LR Schaevitz, H Bowling, N Nag… - Neuroscience, 2007 - Elsevier
Over 90% of Rett syndrome (RTT) cases have a mutation in the X-linked gene encoding
methyl CpG binding-protein 2 (MeCP2). A mouse model that reprises clinical manifestations …

Social impairments in Rett syndrome: characteristics and relationship with clinical severity

WE Kaufmann, E Tierney, CA Rohde… - Journal of …, 2012 - Wiley Online Library
Background While behavioural abnormalities are fundamental features of Rett syndrome
(RTT), few studies have examined the RTT behavioural phenotype. Most of these reports …